Genetic Susceptibility to Autoimmune Thyroid Disease: Past, Present, and Future

Tomer, Yaron

doi:10.1089/thy.2010.1644

Cited by 188 publications

(144 citation statements)

References 125 publications

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“…We now know that GD is a complex genetic disease with significant genetic and environmental influences that may exert their effects via epigenetic mechanisms (26,(33)(34)(35). The susceptibility genes have been identified both by the candidate gene approach and by whole genome linkage and association studies (36).…”

Section: Discussionmentioning

confidence: 99%

Genetic Profiling in Graves' Disease: Further Evidence for Lack of a Distinct Genetic Contribution to Graves' Ophthalmopathy

Yin

Latif

Bahn

et al. 2012

Thyroid

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Background: Graves' disease (GD), including Graves' ophthalmopathy or orbitopathy (GO), is an autoimmune disease with an environmental and genetic component to its etiology. The genetic contribution to the GO clinical phenotype remains unclear. Previous data from our laboratory and others have suggested that GO has no specific genetic component distinct from GD itself, while other reports have occasionally appeared suggesting that polymorphisms in genes such as CTLA4 and IL23R specifically increase the risk for GO. One of the criticisms of all these reports has been the clinical definition of the GO phenotype as distinct from hyperthyroid GD devoid of clinically significant eye involvement. The objective of this study was to take advantage of a phenotypically pure group of GD patients with GO and examine a series of genes associated with GD to determine if any were more definitively associated with GO rather than Graves' thyroid disease itself. Methods: To further examine whether specific susceptibility genes are associated with GO, we have performed further genetic association studies using highly characterized GO patients, many of whom had undergone orbital decompression surgery for their exophthalmos. We genotyped HLA, CTLA4, IL23R, and TSHR genes in a group of 256 Caucasian patients with severe GO (n = 199) and less severe GO (n = 57), and 90 patients with GD but no clinically apparent GO. Results: We found that the allele and genotype frequencies were not statistically different between GO and non-GO patients for any of the genes and gene combinations assessed. Conclusions: These results provide further evidence that patients with GO do not have a distinct genetic susceptibility to their eye disease and again suggest that environmental and/or epigenetic influences are at play.

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Section: Discussionmentioning

confidence: 99%

Genetic Profiling in Graves' Disease: Further Evidence for Lack of a Distinct Genetic Contribution to Graves' Ophthalmopathy

Yin

Latif

Bahn

et al. 2012

Thyroid

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“…Although Graves' disease has a well-known familial tendency, heredity does not explain everything (17,18,19). A study of twins, who are not always 'concordant' for the disease, suggests that genetic factors explain 79% of the incidence of the disease, while environmental factors are responsible for 21% of the cases (20).…”

Section: Genes and Environmentmentioning

confidence: 99%

MECHANISMS IN ENDOCRINOLOGY: Role of emotional stress in the pathophysiology of Graves' disease

Falgarone¹,

Heshmati²,

Cohen³

et al. 2013

European Journal of Endocrinology

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The role of stress in the pathophysiology of Graves' disease is suggested by several clinical observations, by recent advances in immunology and by better understanding of autoimmune diseases which provides new insights into potential effects of stress hormones on T helper cell imbalance involved in the pathogenesis of autoimmune diseases. Stress management should therefore be an important part of the treatment of Graves' disease, as stress reduction may improve the effect of therapy. However, this field still requires interventional data to support stress management in the treatment of Graves' disease. European Journal of Endocrinology 168 R13-R18

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“…It is interesting that both GM and DM had Hashimoto's thyroiditis; however, we do not feel that this is likely to represent an association with MPS II, as autoimmune thyroid disease is a common disorder with familial clustering and a complex genetic background, with recent studies implicating numerous susceptibility loci (Tomer 2010).…”

Section: Discussionmentioning

confidence: 87%

Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase

2011

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Mucopolysaccharidosis type II (MPS IIHunter syndrome) is a rare X-linked recessive disease of lysosomal glycosaminoglycan metabolism leading to a systemic storage disorder. We report three adult brothers (aged 46-52 years) with attenuated Hunter syndrome after 12 months of enzyme replacement therapy with idursulfase. Before enzyme replacement therapy, each had serious complications of their disease: in addition to all requiring urgent cervical spinal canal decompressions in middle age, one required emergency aortic and mitral valve surgery, another had stage IV airways disease, and the third had acute glaucoma resulting in unilateral blindness. One brother discontinued therapy after 12 months. The other two brothers reported subjective improvements in energy and exercise tolerance.

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Genetic Susceptibility to Autoimmune Thyroid Disease: Past, Present, and Future

Cited by 188 publications

References 125 publications

Genetic Profiling in Graves' Disease: Further Evidence for Lack of a Distinct Genetic Contribution to Graves' Ophthalmopathy

Genetic Profiling in Graves' Disease: Further Evidence for Lack of a Distinct Genetic Contribution to Graves' Ophthalmopathy

MECHANISMS IN ENDOCRINOLOGY: Role of emotional stress in the pathophysiology of Graves' disease

Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase

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